{"Name":"Paramyotonia congenita of Von Eulenburg","DiseaseID__c":"GARD:0007325","id":7325,"encodedName":"paramyotonia-congenita-of-von-eulenburg","IsDeleted":false,"Disease_Name_Full__c":"Paramyotonia congenita of Von Eulenburg","Xref_IDs__c":"41574007; C0221055; C122790; DOID:0111538; MEDGEN:113142; MONDO:0008195; OMIM:168300; ORPHA:684","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0008195","Disease_Description__c":"A rare genetic skeletal muscle ion channel disorder, part of the non-dystrophic myotonias, characterized by exercise and/or cold-exacerbated myotonia.","GARD_Name__c":"Paramyotonia congenita of Von Eulenburg","GARD_Synonym__c":"eulenburg disease; eulenburg syndrome; eulenburg's disease; myotonia congenita intermittens; paralysis periodica paramyotonica; paramyotonia congenita; von eulenburg paramyotonia congenita","Curated_Disease_Description_Source__c":"GARD:0007325","Curated_Disease_Description__c":"Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that typically appears after exercise and can be induced by muscle cooling. This stiffness chiefly affects muscles in the face, neck, arms, and hands, although it can also affect muscles used for breathing and muscles in the lower body. Unlike many other forms of myotonia, the muscle stiffness associated with paramyotonia congenita tends to worsen with repeated movements. Most people—even those without muscle disease—feel that their muscles do not work as well when they are cold. This effect is dramatic in people with paramyotonia congenita. Exposure to cold initially causes muscle stiffness in these individuals, and prolonged cold exposure leads to temporary episodes of mild to severe muscle weakness that may last for several hours at a time. Some older people with paramyotonia congenita develop permanent muscle weakness that can be disabling.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:684","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008195","ORPHANET_ID__c":"ORPHA:684","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paramiotonía congénita de von eulenburg","Spanish_Description_Source__c":"ORPHA:684","Spanish_Description__c":"Es un trastorno genético poco frecuente de los canales iónicos del músculo esquelético que forma parte de las miotonías no distróficas. Está caracterizado por miotonía exacerbada por el ejercicio y/o por el frío.","Spanish_Disease_Name__c":"paramiotonía congénita de von eulenburg","Spanish_GARD_Synonym__c":"paramiotonía congénita","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that typically appears after exercise and can be induced by muscle cooling. This stiffness chiefly affects muscles in the face, neck, arms, and hands, although it can also affect muscles used for breathing and muscles in the lower body. Unlike many other forms of myotonia, the muscle stiffness associated with paramyotonia congenita tends to worsen with repeated movements. Most people—even those without muscle disease—feel that their muscles do not work as well when they are cold. This effect is dramatic in people with paramyotonia congenita. Exposure to cold initially causes muscle stiffness in these individuals, and prolonged cold exposure leads to temporary episodes of mild to severe muscle weakness that may last for several hours at a time. Some older people with paramyotonia congenita develop permanent muscle weakness that can be disabling.","Curated_Disease_Description_Source__c":"GARD:0007325","GARD_Synonym__c":"eulenburg disease; eulenburg syndrome; eulenburg's disease; myotonia congenita intermittens; paralysis periodica paramyotonica; paramyotonia congenita; von eulenburg paramyotonia congenita","Name":"Paramyotonia congenita of Von Eulenburg","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Periodic Paralysis Association","Website__c":"https://periodicparalysis.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Periodic Paralysis International","Website__c":"https://www.hkpp.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:684"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:684"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:684"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:684"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007325","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/684","Source__c":"C0221055; MONDO:0008195; ORPHA:684","Xref__c":"ORPHA:684"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=41574007","Source__c":"C0221055; MONDO:0008195","Xref__c":"41574007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=113142","Source__c":"C0221055","Xref__c":"MEDGEN:113142"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111538","Source__c":"MONDO:0008195","Xref__c":"DOID:0111538"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C122790","Source__c":"C0221055; MONDO:0008195","Xref__c":"C122790"},{"URL__c":"https://www.omim.org/entry/168300","Source__c":"C0221055; MONDO:0008195; ORPHA:684","Xref__c":"OMIM:168300"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0221055","Source__c":"C0221055","Xref__c":"C0221055"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008195","Source__c":"GARD:0007325","Xref__c":"MONDO:0008195"},{"URL__c":"https://medlineplus.gov/genetics/condition/paramyotonia-congenita","Source__c":"GARD:0007325","Xref__c":"https://medlineplus.gov/genetics/condition/paramyotonia-congenita"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SCN4A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/scn4a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Slowed relaxation of muscles in the arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012903","HPO_Name__c":"Myotonia of the upper limb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001319","HPO_Synonym__c":"Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset","HPO_Name__c":"Neonatal hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased muscle weakness upon exposure to cold temperatures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031372","HPO_Name__c":"Cold paresis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Slowed relaxation of muscles in the jaw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012901","HPO_Name__c":"Myotonia of the jaw","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012892","HPO_Synonym__c":"Increased size of facial muscles; Large facial muscles","HPO_Name__c":"Facial muscle hypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004875","HPO_Name__c":"Neonatal inspiratory stridor","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002486","HPO_Synonym__c":"Delayed relaxation of muscle fibers after contraction","HPO_Name__c":"Myotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012904","HPO_Name__c":"Cold-sensitive myotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010548","HPO_Synonym__c":"Transient swelling of muscle induced by percussion","HPO_Name__c":"Percussion myotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal concentration of potassium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011042","HPO_Synonym__c":"Abnormal blood K concentration; Abnormal blood potassium concentration; Abnormality of potassium homeostasis","HPO_Name__c":"Abnormal circulating potassium concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003458","HPO_Synonym__c":"EMG: myopathic changes; EMG: myopathy; Myopathic electromyogram","HPO_Name__c":"EMG: myopathic abnormalities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012899","HPO_Synonym__c":"Grip myotonia","HPO_Name__c":"Handgrip myotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Slowed relaxation of muscles in the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012900","HPO_Name__c":"Myotonia of the face","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Episodes of muscle weakness associated with reduced levels of potassium in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008153","HPO_Synonym__c":"Hypokalemic periodic paresis","HPO_Name__c":"Periodic hypokalemic paresis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of myotonia that worsens with repeated muscle contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011809","HPO_Name__c":"Paradoxical myotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which muscles cannot be moved quickly without accompanying pain or spasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003552","HPO_Name__c":"Muscle stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["eulenburg disease"," eulenburg syndrome"," eulenburg's disease"," myotonia congenita intermittens"," paralysis periodica paramyotonica"," paramyotonia congenita"," von eulenburg paramyotonia congenita"]}